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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:factor VIII deficiency
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Accession:DOID:12134 term browser browse the term
Definition:A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. (DO)
Synonyms:exact_synonym: Congenital Hemophilia A;   HEMA;   classic hemophilia;   classic hemophilia A;   classic hemophilias;   congenital factor 8 deficiency;   congenital factor VIII deficiency;   congenital factor VIII disorder;   haemophilia;   haemophilia A;   hemophilia;   hemophilia A;   hemophilia A, FVIII deficiency;   subhemophilia
 broad_synonym: F8-RELATED CONDITION
 related_synonym: factor VIII (Okayama)
 primary_id: MESH:D006467
 alt_id: MIM:306700;   OMIA:000437
 xref: EFO:0007267;   GARD:6591;   ICD10CM:D66;   ICD9CM:286.0;   MONDO:0010602;   NCI:C27146;   NCI:C3093;   ORDO:98878
For additional species annotation, visit the Alliance of Genome Resources.


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factor VIII deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement component 3 ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136 		JBrowse link
G Cd40lg CD40 ligand treatment IMP RGD PMID:11776297 RGD:11352263 NCBI chr  X:56,257,448...56,269,402
Ensembl chr  X:56,257,503...56,269,402 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:24416283 PMID:25741868 PMID:28492532 PMID:29287849 PMID:31445392 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Cfb complement factor B ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr17:35,075,350...35,081,492
Ensembl chr17:35,075,350...35,081,494 		JBrowse link
G Cfp complement factor properdin ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:26635073 RGD:11565076 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Hemophilia ClinVar PMID:25741868 NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809 		JBrowse link
G F8 coagulation factor VIII treatment ISO
IAGP		 ClinVar Annotator: match by term: F8-related condition | ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A | ClinVar Annotator: match by term: Hemophilia A, congenital | ClinVar Annotator: match by term: Hemophilia, classic
OMIM:134500
DNA,protein:missense mutation,decreased activity:exon:p.L176P(rat)
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, frameshift mutation:exon:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... RGD:1582357, RGD:150520060, RGD:7245964, RGD:11530071, RGD:10450758, RGD:10450757 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F9 coagulation factor IX ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Factor 8 deficiency, congenital | ClinVar Annotator: match by term: Factor VIII deficiency, congenital		 CTD
ClinVar		 PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:59,044,675...59,076,120
Ensembl chr  X:59,044,824...59,076,119 		JBrowse link
G Fcgr3 Fc receptor, IgG, low affinity III susceptibility ISO DNA:SNP:cds:p.R131H (human) RGD PMID:24916518 RGD:11040767 NCBI chr 1:170,878,738...170,893,477
Ensembl chr 1:170,878,743...170,892,504 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital | ClinVar Annotator: match by term: Hemophilia A ClinVar PMID:2105106 PMID:2563431 NCBI chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:24726177 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha ISO RGD PMID:9157572 RGD:11041784 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G Hc hemolytic complement ISO protein:increased expression:blood RGD PMID:6912882 RGD:11041156 NCBI chr 2:34,873,341...34,958,518
Ensembl chr 2:34,873,343...34,951,450 		JBrowse link
G Hmox1 heme oxygenase 1 treatment ISO DNA:repeat:promoter RGD PMID:23716558 RGD:10755564 NCBI chr 8:75,820,246...75,827,221
Ensembl chr 8:75,820,249...75,827,217 		JBrowse link
G Ifng interferon gamma treatment ISO DNA:SNP: :+874 A>T (human) RGD PMID:25930091 RGD:11055683 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il10 interleukin 10 treatment ISO DNA:SNPs, haplotypes:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human) RGD PMID:20082647 RGD:11049183 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity
no_association		 ISO DNA:SNP: :677C>T (human)
DNA:SNP: :1298A>C (human)		 RGD PMID:22411997 PMID:22411997 RGD:10449409, RGD:10449409 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Plat plasminogen activator, tissue treatment ISO RGD PMID:1419807 RGD:11552591 NCBI chr 8:23,247,655...23,272,864
Ensembl chr 8:23,247,743...23,272,860 		JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar PMID:2105106 NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Tfpi tissue factor pathway inhibitor treatment ISO
IMP		 RGD PMID:24263002 PMID:22355108 PMID:24687919 RGD:11060141, RGD:11060147, RGD:11060256 NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO DNA:polymorphism: :869T>C(rs1982037)(human) RGD PMID:25930091 RGD:11055683 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Vwf Von Willebrand factor treatment IMP
ISO		 ClinVar Annotator: match by term: Factor VIII deficiency, congenital ClinVar
RGD		 PMID:25741868 PMID:25955153 RGD:11073776 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
autosomal hemophilia A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:24416283 PMID:25741868 PMID:28492532 PMID:29287849 PMID:31445392 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A | ClinVar Annotator: match by term: Mild hemophilia A ClinVar PMID:1301194 PMID:1301932 PMID:1301960 PMID:1349567 PMID:1357455 More... NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G F9 coagulation factor IX ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:1346975 PMID:1615486 PMID:1680287 PMID:1864609 PMID:1873221 More... NCBI chr  X:59,044,675...59,076,120
Ensembl chr  X:59,044,824...59,076,119 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:2563431 NCBI chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:24726177 PMID:25741868 PMID:28492532 PMID:34387910 NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202 		JBrowse link
G H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 PMID:22759210 NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:2105106 NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G Vwf Von Willebrand factor ISO ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A ClinVar PMID:25741868 NCBI chr 6:125,529,911...125,663,642
Ensembl chr 6:125,523,737...125,663,642 		JBrowse link
Factor V and Factor VIII, Combined Deficiency of, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2 ISO DNA:missense mutation: :p.D122V (human)
ClinVar Annotator: match by term: Factor v and factor viii, combined deficiency of, 2		 OMIM
ClinVar
RGD		 PMID:12717434 PMID:13229969 PMID:18391077 PMID:25741868 PMID:31064749 More... RGD:11062141 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
Factor VIII Deficiency, Acquired term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G F8 coagulation factor VIII ISO CTD Direct Evidence: therapeutic CTD PMID:11886462 NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
Familial Multiple Coagulation Factor Deficiency I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman1 lectin, mannose-binding, 1 ISO ClinVar Annotator: match by term: FMFD I OMIM
ClinVar		 PMID:9045860 PMID:9546392 PMID:18391077 PMID:25741868 PMID:31064749 NCBI chr18:66,113,810...66,135,706
Ensembl chr18:66,113,809...66,155,651 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2 ISO ClinVar Annotator: match by term: FMFD I ClinVar PMID:12717434 PMID:13229969 PMID:25741868 PMID:31064749 NCBI chr17:87,561,871...87,573,382
Ensembl chr17:87,561,871...87,573,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16193
    disease of anatomical entity 15759
      hematopoietic system disease 3463
        blood coagulation disease 1036
          Inherited Blood Coagulation Disease 289
            factor VIII deficiency 27
              Factor V and Factor VIII, Combined Deficiency of, 2 1
              Factor VIII Deficiency, Acquired 1
              Familial Multiple Coagulation Factor Deficiency I 2
              Hemophilia A with Vascular Abnormality 0
              autosomal hemophilia A 9
Path 2
Term Annotations click to browse term
  disease 16193
    Developmental Disease 13987
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13036
        genetic disease 12734
          monogenic disease 10681
            X-linked monogenic disease 1439
              X-linked recessive disease 659
                factor VIII deficiency 27
                  Factor V and Factor VIII, Combined Deficiency of, 2 1
                  Factor VIII Deficiency, Acquired 1
                  Familial Multiple Coagulation Factor Deficiency I 2
                  Hemophilia A with Vascular Abnormality 0
                  autosomal hemophilia A 9
paths to the root